Professor Tony Roscioli

Professor Tony Roscioli

Conjoint Professor
Medicine & Health
School of Clinical Medicine

Dr Tony Roscioli is a clinical geneticist at Sydney Children's Hospital and Associate Professor of Neurogenomics, NeuRA, UNSW Medicine.  He currently leads an NHMRC CRE in Neurocognition and the Federal MRFF grant for prenatal genomics, PreGen.

His clinical training has been in the fields of paediatric internal medicine and human genetics with an emphasis on dysmorphology.  The basis of his research interests in gene identification has stemmed from his clinical training in the field of developmental anomalies / congenital malformations.

Dr Roscioli's research training commenced with an 18-month Royal Children's Hospital Foundation Research Fellowship in craniofacial biology (resulting in four papers immediately associated with the research and 9 additional papers in later years).  His PhD studies at UNSW were supported by an NHMRC post-graduate medical and dental scholarship and produced three substantive papers, the major of which was in Nature Genetics, describing the genetic basis of a novel primary immunodeficiency (SP110).

Subsequently, Dr Roscioli was awarded an NHMRC Overseas Biomedical Postdoctoral Fellowship, the oversas component of which was conducted in the leading European Department of Human Genetics at Radbound University Nijmegen Medical Centre, The Netherlands.  This fellowship provided  valuable traiing in genomic medicine with a focus on disorders of neuronal migration, intellecutal disability and craniosynostosis / orofacial clefting.  It has resulted in four major publications regarding the role of FREM1 in metatopic craniosynostosis (PLoS Genetics), PIGV in intellectual disability (Nature Genetics), ACTB and ACTG1 in Baraitser-Winter Syndrome (Nature Genetics), and ISPD, a novel glycosyltransferase as a major gene in Walker-Warburg syndrome (Nature Genetics).

Gene identification has been a major research emphasis in the past 10 years, with the publication of 15 new disease genes. This involved the utilization of complementary techniques including exome sequencing, SNP arrays and homozygosity mapping. Dr Roscioli has co-authored nationally competitive grants including two NHMRC project grants in Australia, a Prinses Beatrix Fonds grant and submitted a CRE in intellectual disability to the NHMRC. He has also co-authored a reference chapter on SP110 and immunodeficiency.

Dr Roscioli is currently supervising two PhD students in genomics, and has previously supervised an honours student in Nijmegen which resulted in co-authorship for her on her first publication (PIGV, Nature Genetics).

Dr Roscioli has taken a leadership role in developing genomic consent forms, which are now approved for use by the HGSA in Australia and New Zealand. Clinical genetic/genomic research skills and expertise in craniofacial and ID disorders will facilitate ongoing success.

Research Keywords:

Mental retardation, genomics, inherited, bioinformatics, gene identification,

Phone
02 9515 3539
  • Book Chapters | 2007
    Roscioli T; Ziegler JB; Buckley MF; Wong M, 2007, 'Hepatic veno-occlusive disease with immunodeficiency', in Pagon R (ed.), Gene Reviews, edn. Original, GeneTests, Seattle, pp. 1 - 15
  • Journal articles | 2024
    Dias K-R; Shrestha R; Schofield D; Evans C-A; O'Heir E; Zhu Y; Zhang F; Standen K; Weisburd B; Stenton SL; Sanchis-Juan A; Brand H; Talkowski ME; Ma A; Ghedia S; Wilson M; Sandaradura SA; Smith J; Kamien B; Turner A; Bakshi M; Adès LC; Mowat D; Regan M; McGillivray G; Savarirayan R; White SM; Tan TY; Stark Z; Brown NJ; Pérez-Jurado LA; Krzesinski E; Hunter MF; Akesson L; Fennell AP; Yeung A; Boughtwood T; Ewans L; Kerkhof J; Lucas C; Carey L; French H; Rapadas M; Stevanovski I; Deveson IW; Cliffe C; Elakis G; Kirk EP; Dudding-Byth T; Fletcher J; Walsh R; Corbett MA; Kroes T; Gecz J; Meldrum C; Cliffe S; Wall M; Lunke S; North K; Amor DJ; Field M; Sadikovic B; Buckley MF; O'Donnell-Luria A; Roscioli T, 2024, 'Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort.', Genet Med, pp. 101076, http://dx.doi.org/10.1016/j.gim.2024.101076
    Journal articles | 2023
    Al-shinnag M; Forwood C; Walsh R; Josephi-Taylor S; Wilson A; Zhang F; Zhu Y; Moghimi A; Buckley MF; Roscioli T, 2023, 'The role of perinatal phenotyping in confirming the molecular diagnosis of congenital dyseryhtropoietic anaemia type I (CDA1) – a case report', Pathology, 55, pp. S41 - S41, http://dx.doi.org/10.1016/j.pathol.2022.12.132
    Journal articles | 2023
    Forwood C; Ashton K; Zhu Y; Zhang F; Dias KR; Standen K; Evans CA; Carey L; Cardamone M; Shalhoub C; Katf H; Riveros C; Hsieh TC; Krawitz P; Robinson PN; Dudding-Byth T; Sadikovic B; Pinner J; Buckley MF; Roscioli T, 2023, 'Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 193, http://dx.doi.org/10.1002/ajmg.c.32056
    Journal articles | 2023
    Kuroda Y; Iwata-Otsubo A; Dias KR; Temple SEL; Nagao K; De Hayr L; Zhu Y; Isobe SY; Nishibuchi G; Fiordaliso SK; Fujita Y; Rippert AL; Baker SW; Leung ML; Koboldt DC; Harman A; Keena BA; Kazama I; Subramanian GM; Manickam K; Schmalz B; Latsko M; Zackai EH; Edwards M; Evans CA; Dulik MC; Buckley MF; Yamashita T; O'Brien WT; Harvey RJ; Obuse C; Roscioli T; Izumi K, 2023, 'Dominant-negative variants in CBX1 cause a neurodevelopmental disorder', Genetics in Medicine, 25, http://dx.doi.org/10.1016/j.gim.2023.100861
    Journal articles | 2023
    Mattoteia D; Chiapparino A; Fumagalli M; De Marco M; De Giorgi F; Negro L; Pinnola A; Faravelli S; Roscioli T; Scietti L; Forneris F, 2023, 'Identification of Regulatory Molecular “Hot Spots” for LH/PLOD Collagen Glycosyltransferase Activity', International Journal of Molecular Sciences, 24, http://dx.doi.org/10.3390/ijms241311213
    Journal articles | 2023
    Rots D; Jakub TE; Keung C; Jackson A; Banka S; Pfundt R; de Vries BBA; van Jaarsveld RH; Hopman SMJ; van Binsbergen E; Valenzuela I; Hempel M; Bierhals T; Kortüm F; Lecoquierre F; Goldenberg A; Hertz JM; Andersen CB; Kibæk M; Prijoles EJ; Stevenson RE; Everman DB; Patterson WG; Meng L; Gijavanekar C; De Dios K; Lakhani S; Levy T; Wagner M; Wieczorek D; Benke PJ; Lopez Garcia MS; Perrier R; Sousa SB; Almeida PM; Simões MJ; Isidor B; Deb W; Schmanski AA; Abdul-Rahman O; Philippe C; Bruel AL; Faivre L; Vitobello A; Thauvin C; Smits JJ; Garavelli L; Caraffi SG; Peluso F; Davis-Keppen L; Platt D; Royer E; Leeuwen L; Sinnema M; Stegmann APA; Stumpel CTRM; Tiller GE; Bosch DGM; Potgieter ST; Joss S; Splitt M; Holden S; Prapa M; Foulds N; Douzgou S; Puura K; Waltes R; Chiocchetti AG; Freitag CM; Satterstrom FK; De Rubeis S; Buxbaum J; Gelb BD; Branko A; Kushima I; Howe J; Scherer SW; Arado A; Baldo C; Patat O; Bénédicte D; Lopergolo D; Santorelli FM; Haack TB; Dufke A; Bertrand M; Falb RJ; Rieß A; Krieg P; Spranger S; Bedeschi MF; Iascone M; Josephi-Taylor S; Roscioli T; Buckley MF; Liebelt J; Dagli AI; Aten E; Hurst ACE; Hicks A, 2023, 'The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder', American Journal of Human Genetics, 110, pp. 963 - 978, http://dx.doi.org/10.1016/j.ajhg.2023.04.008
    Journal articles | 2023
    Seed E; Noon F; Milnes D; Roscioli T; Kristensen K; Ellwood D; DaSilva Costa F, 2023, 'Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth', Prenatal Diagnosis, 43, pp. 1678 - 1681, http://dx.doi.org/10.1002/pd.6471
    Journal articles | 2023
    Serey-Gaut M; Cortes M; Makrythanasis P; Suri M; Taylor AMR; Sullivan JA; Asleh AN; Mitra J; Dar MA; McNamara A; Shashi V; Dugan S; Song X; Rosenfeld JA; Cabrol C; Iwaszkiewicz J; Zoete V; Pehlivan D; Akdemir ZC; Roeder ER; Littlejohn RO; Dibra HK; Byrd PJ; Stewart GS; Geckinli BB; Posey J; Westman R; Jungbluth C; Eason J; Sachdev R; Evans CA; Lemire G; VanNoy GE; O'Donnell-Luria A; Mau-Them FT; Juven A; Piard J; Nixon CY; Zhu Y; Ha T; Buckley MF; Thauvin C; Essien Umanah GK; Van Maldergem L; Lupski JR; Roscioli T; Dawson VL; Dawson TM; Antonarakis SE, 2023, 'Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly', American Journal of Human Genetics, 110, pp. 499 - 515, http://dx.doi.org/10.1016/j.ajhg.2023.01.006
    Journal articles | 2023
    Smits DJ; Schot R; Popescu CA; Dias KR; Ades L; Briere LC; Sweetser DA; Kushima I; Aleksic B; Khan S; Karageorgou V; Ordonez N; Sleutels FJGT; van der Kaay DCM; Van Mol C; Van Esch H; Bertoli-Avella AM; Roscioli T; Mancini GMS, 2023, 'De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues', Human Genetics, 142, pp. 949 - 964, http://dx.doi.org/10.1007/s00439-023-02569-7
    Journal articles | 2023
    Stark Z; Boughtwood T; Haas M; Braithwaite J; Gaff CL; Goranitis I; Spurdle AB; Hansen DP; Hofmann O; Laing N; Metcalfe S; Newson AJ; Scott HS; Thorne N; Ward RL; Dinger ME; Best S; Long JC; Grimmond SM; Pearson J; Waddell N; Barnett CP; Cook M; Field M; Fielding D; Fox SB; Gecz J; Jaffe A; Leventer RJ; Lockhart PJ; Lunke S; Mallett AJ; McGaughran J; Mileshkin L; Nones K; Roscioli T; Scheffer IE; Semsarian C; Simons C; Thomas DM; Thorburn DR; Tothill R; White D; Dunwoodie S; Simpson PT; Phillips P; Brion MJ; Finlay K; Quinn MC; Mattiske T; Tudini E; Boggs K; Murray S; Wells K; Cannings J; Sinclair AH; Christodoulou J; North KN, 2023, 'Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare', American Journal of Human Genetics, 110, pp. 419 - 426, http://dx.doi.org/10.1016/j.ajhg.2023.01.018
    Journal articles | 2023
    Strong A; Rao S; von Hardenberg S; Li D; Cox LL; Lee PC; Zhang LQ; Awotoye W; Diamond T; Gold J; Gooch C; Gowans LJJ; Hakonarson H; Hing A; Loomes K; Martin N; Marazita ML; Mononen T; Piccoli D; Pfundt R; Raskin S; Scherer SW; Sobriera N; Vaccaro C; Wang X; Watson D; Weksberg R; Bhoj E; Murray JC; Lidral AC; Butali A; Buckley MF; Roscioli T; Koolen DA; Seaver LH; Prows CA; Stottmann RW; Cox TC, 2023, 'A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature', American Journal of Medical Genetics, Part A, 191, pp. 1227 - 1239, http://dx.doi.org/10.1002/ajmg.a.63130
    Journal articles | 2023
    Thomas-Wilson A; Schacht JP; Chitayat D; Blaser S; Santos FJR; Glaser K; Caffo A; Wentzensen IM; Henderson LB; Zhang F; Zhu Y; Di Corleto E; da Silva Costa F; Vink R; Alkhunaizi E; Russell L; Buckley MF; Roscioli T; Pereira EM; Ganapathi M, 2023, 'Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review', American Journal of Medical Genetics, Part A, 191, pp. 1935 - 1941, http://dx.doi.org/10.1002/ajmg.a.63203
    Journal articles | 2023
    Vetro A; Pelorosso C; Balestrini S; Masi A; Hambleton S; Argilli E; Conti V; Giubbolini S; Barrick R; Bergant G; Writzl K; Bijlsma EK; Brunet T; Cacheiro P; Mei D; Devlin A; Hoffer MJV; Machol K; Mannaioni G; Sakamoto M; Menezes MP; Courtin T; Sherr E; Parra R; Richardson R; Roscioli T; Scala M; von Stülpnagel C; Smedley D; Pochiero F; Mari F; Ramesh V; Capra V; Mancardi M; Keren B; Mignot C; Lulli M; Parks K; Griffin H; Brugger M; Nigro V; Hirata Y; Koichihara R; Peterlin B; Maki R; Nitta Y; Ambrose JC; Arumugam P; Bevers R; Bleda M; Boardman-Pretty F; Boustred CR; Brittain H; Brown MA; Caulfield MJ; Chan GC; Giess A; Griffin JN; Hamblin A; Henderson S; Hubbard TJP; Jackson R; Jones LJ; Kasperaviciute D; Kayikci M; Kousathanas A; Lahnstein L; Lakey A; Leigh SEA; Leong IUS; Lopez JF; Maleady-Crowe F; McEntagart M; Minneci F; Mitchell J; Moutsianas L; Mueller M; Murugaesu N; Need AC; O'Donovan P; Odhams CA; Patch C; Perez-Gil D; Pereira MB; Pullinger J; Rahim T; Rendon A; Rogers T; Savage K; Sawant K; Scott RH; Siddiq A; Sieghart A; Smith SC; Sosinsky A; Stuckey A; Tanguy M; Taylor Tavares AL; Thomas ERA; Thompson SR, 2023, 'Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration', American Journal of Human Genetics, 110, pp. 1356 - 1376, http://dx.doi.org/10.1016/j.ajhg.2023.06.008
    Journal articles | 2022
    Bournazos AM; Riley LG; Bommireddipalli S; Ades L; Akesson LS; Al-Shinnag M; Alexander SI; Archibald AD; Balasubramaniam S; Berman Y; Beshay V; Boggs K; Bojadzieva J; Brown NJ; Bryen SJ; Buckley MF; Chong B; Davis MR; Dawes R; Delatycki M; Donaldson L; Downie L; Edwards C; Edwards M; Engel A; Ewans LJ; Faiz F; Fennell A; Field M; Freckmann ML; Gallacher L; Gear R; Goel H; Goh S; Goodwin L; Hanna B; Harraway J; Higgins M; Ho G; Hopper BK; Horton AE; Hunter MF; Huq AJ; Josephi-Taylor S; Joshi H; Kirk E; Krzesinski E; Kumar KR; Lemckert F; Leventer RJ; Lindsey-Temple SE; Lunke S; Ma A; Macaskill S; Mallawaarachchi A; Marty M; Marum JE; McCarthy HJ; Menezes MP; McLean A; Milnes D; Mohammad S; Mowat D; Niaz A; Palmer EE; Patel C; Patel SG; Phelan D; Pinner JR; Rajagopalan S; Regan M; Rodgers J; Rodrigues M; Roxburgh RH; Sachdev R; Roscioli T; Samarasekera R; Sandaradura SA; Savva E; Schindler T; Shah M; Sinnerbrink IB; Smith JM; Smith RJ; Springer A; Stark Z; Strom SP; Sue CM; Tan K; Tan TY; Tantsis E; Tchan MC; Thompson BA; Trainer AH; van Spaendonck-Zwarts K; Walsh R; Warwick L; White S; White SM; Williams MG, 2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001
    Journal articles | 2022
    Dhombres F; Morgan P; Chaudhari BP; Filges I; Sparks TN; Lapunzina P; Roscioli T; Agarwal U; Aggarwal S; Beneteau C; Cacheiro P; Carmody LC; Collardeau-Frachon S; Dempsey EA; Dufke A; Duyzend MH; el Ghosh M; Giordano JL; Glad R; Grinfelde I; Iliescu DG; Ladewig MS; Munoz-Torres MC; Pollazzon M; Radio FC; Rodo C; Silva RG; Smedley D; Sundaramurthi JC; Toro S; Valenzuela I; Vasilevsky NA; Wapner RJ; Zemet R; Haendel MA; Robinson PN, 2022, 'Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 190, pp. 231 - 242, http://dx.doi.org/10.1002/ajmg.c.31989
    Journal articles | 2022
    Dias KR; Carlston CM; Blok LER; De Hayr L; Nawaz U; Evans CA; Bayrak-Toydemir P; Htun S; Zhu Y; Ma A; Lynch SA; Moorwood C; Stals K; Ellard S; Bainbridge MN; Friedman J; Pappas JG; Rabin R; Nowak CB; Douglas J; Wilson TE; Guillen Sacoto MJ; Mullegama SV; Palculict TB; Kirk EP; Pinner JR; Edwards M; Montanari F; Graziano C; Pippucci T; Dingmann B; Glass I; Mefford HC; Shimoji T; Suzuki T; Yamakawa K; Streff H; Schaaf CP; Slavotinek AM; Voineagu I; Carey JC; Buckley MF; Schenck A; Harvey RJ; Roscioli T, 2022, 'De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations', Genetics in Medicine, 24, pp. 1952 - 1966, http://dx.doi.org/10.1016/j.gim.2022.06.001
    Journal articles | 2022
    Ewans LJ; Minoche AE; Schofield D; Shrestha R; Puttick C; Zhu Y; Drew A; Gayevskiy V; Elakis G; Walsh C; Adès LC; Colley A; Ellaway C; Evans CA; Freckmann ML; Goodwin L; Hackett A; Kamien B; Kirk EP; Lipke M; Mowat D; Palmer E; Rajagopalan S; Ronan A; Sachdev R; Stevenson W; Turner A; Wilson M; Worgan L; Morel-Kopp MC; Field M; Buckley MF; Cowley MJ; Dinger ME; Roscioli T, 2022, 'Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis', European Journal of Human Genetics, 30, pp. 1121 - 1131, http://dx.doi.org/10.1038/s41431-022-01162-2
    Journal articles | 2022
    Helman G; Zarekiani P; Tromp SAM; Andrews A; Botto LD; Bonkowsky JL; Chassevent A; Giorgio E; Pippucci T; Wei S; Smith-Hicks C; Vaula G; Willemsen MAAP; Schimmel M; Vollert K; Shimizu F; Kanda T; Lynch M; Roscioli T; Taft RJ; Simons C; Bugiani M; Kuijpers TW; van der Knaap MS, 2022, 'Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy', Annals of Neurology, 92, pp. 895 - 901, http://dx.doi.org/10.1002/ana.26477
    Journal articles | 2022
    Janssen BDE; van den Boogaard MJH; Lichtenbelt K; Seaby EG; Stals K; Ellard S; Newbury-Ecob R; Dixit A; Roht L; Pajusalu S; Õunap K; Firth HV; Buckley M; Wilson M; Roscioli T; Tidwell T; Mao R; Ennis S; Holwerda SJ; van Gassen K; van Jaarsveld RH, 2022, 'De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder', Human Mutation, 43, pp. 1844 - 1851, http://dx.doi.org/10.1002/humu.24444
    Journal articles | 2022
    Levy MA; McConkey H; Kerkhof J; Barat-Houari M; Bargiacchi S; Biamino E; Bralo MP; Cappuccio G; Ciolfi A; Clarke A; DuPont BR; Elting MW; Faivre L; Fee T; Fletcher RS; Cherik F; Foroutan A; Friez MJ; Gervasini C; Haghshenas S; Hilton BA; Jenkins Z; Kaur S; Lewis S; Louie RJ; Maitz S; Milani D; Morgan AT; Oegema R; Østergaard E; Pallares NR; Piccione M; Pizzi S; Plomp AS; Poulton C; Reilly J; Relator R; Rius R; Robertson S; Rooney K; Rousseau J; Santen GWE; Santos-Simarro F; Schijns J; Squeo GM; St John M; Thauvin-Robinet C; Traficante G; van der Sluijs PJ; Vergano SA; Vos N; Walden KK; Azmanov D; Balci T; Banka S; Gecz J; Henneman P; Lee JA; Mannens MMAM; Roscioli T; Siu V; Amor DJ; Baynam G; Bend EG; Boycott K; Brunetti-Pierri N; Campeau PM; Christodoulou J; Dyment D; Esber N; Fahrner JA; Fleming MD; Genevieve D; Kerrnohan KD; McNeill A; Menke LA; Merla G; Prontera P; Rockman-Greenberg C; Schwartz C; Skinner SA; Stevenson RE; Vitobello A; Tartaglia M; Alders M; Tedder ML; Sadikovic B, 2022, 'Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders', Human Genetics and Genomics Advances, 3, http://dx.doi.org/10.1016/j.xhgg.2021.100075
    Journal articles | 2022
    Levy MA; Relator R; McConkey H; Pranckeviciene E; Kerkhof J; Barat-Houari M; Bargiacchi S; Biamino E; Palomares Bralo M; Cappuccio G; Ciolfi A; Clarke A; DuPont BR; Elting MW; Faivre L; Fee T; Ferilli M; Fletcher RS; Cherick F; Foroutan A; Friez MJ; Gervasini C; Haghshenas S; Hilton BA; Jenkins Z; Kaur S; Lewis S; Louie RJ; Maitz S; Milani D; Morgan AT; Oegema R; Østergaard E; Pallares NR; Piccione M; Plomp AS; Poulton C; Reilly J; Rius R; Robertson S; Rooney K; Rousseau J; Santen GWE; Santos-Simarro F; Schijns J; Squeo GM; John MS; Thauvin-Robinet C; Traficante G; van der Sluijs PJ; Vergano SA; Vos N; Walden KK; Azmanov D; Balci TB; Banka S; Gecz J; Henneman P; Lee JA; Mannens MMAM; Roscioli T; Siu V; Amor DJ; Baynam G; Bend EG; Boycott K; Brunetti-Pierri N; Campeau PM; Campion D; Christodoulou J; Dyment D; Esber N; Fahrner JA; Fleming MD; Genevieve D; Heron D; Husson T; Kernohan KD; McNeill A; Menke LA; Merla G; Prontera P; Rockman-Greenberg C; Schwartz C; Skinner SA; Stevenson RE; Vincent M; Vitobello A; Tartaglia M; Alders M; Tedder ML; Sadikovic B, 2022, 'Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders', Human Mutation, 43, pp. 1609 - 1628, http://dx.doi.org/10.1002/humu.24446
    Journal articles | 2022
    Stephenson SEM; Costain G; Blok LER; Silk MA; Nguyen TB; Dong X; Alhuzaimi DE; Dowling JJ; Walker S; Amburgey K; Hayeems RZ; Rodan LH; Schwartz MA; Picker J; Lynch SA; Gupta A; Rasmussen KJ; Schimmenti LA; Klee EW; Niu Z; Agre KE; Chilton I; Chung WK; Revah-Politi A; Au PYB; Griffith C; Racobaldo M; Raas-Rothschild A; Ben Zeev B; Barel O; Moutton S; Morice-Picard F; Carmignac V; Cornaton J; Marle N; Devinsky O; Stimach C; Wechsler SB; Hainline BE; Sapp K; Willems M; Bruel AL; Dias KR; Evans CA; Roscioli T; Sachdev R; Temple SEL; Zhu Y; Baker JJ; Scheffer IE; Gardiner FJ; Schneider AL; Muir AM; Mefford HC; Crunk A; Heise EM; Millan F; Monaghan KG; Person R; Rhodes L; Richards S; Wentzensen IM; Cogné B; Isidor B; Nizon M; Vincent M; Besnard T; Piton A; Marcelis C; Kato K; Koyama N; Ogi T; Goh ESY; Richmond C; Amor DJ; Boyce JO; Morgan AT; Hildebrand MS; Kaspi A; Bahlo M; Friðriksdóttir R; Katrínardóttir H; Sulem P; Stefánsson K; Björnsson HT; Mandelstam S; Morleo M; Mariani M; Scala M; Accogli A; Torella A; Capra V; Wallis M; Jansen S; Weisfisz Q; de Haan H; Sadedin S; Lim SC; White SM; Ascher DB, 2022, 'Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome', American Journal of Human Genetics, 109, pp. 601 - 617, http://dx.doi.org/10.1016/j.ajhg.2022.03.002
    Journal articles | 2022
    Temple SEL; Ho G; Bennetts B; Boggs K; Vidic N; Mowat D; Christodoulou J; Schultz A; Gayagay T; Roscioli T; Zhu Y; Lunke S; Armstrong D; Harrison J; Kapur N; McDonald T; Selvadurai H; Tai A; Stark Z; Jaffe A, 2022, 'The role of exome sequencing in childhood interstitial or diffuse lung disease', Orphanet Journal of Rare Diseases, 17, http://dx.doi.org/10.1186/s13023-022-02508-1
    Journal articles | 2022
    Wong WK; Troedson C; Dale RC; Roscioli T; Field M; Palmer E; Martin EM; Kumar KR; Mohammad SS, 2022, 'Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2', Movement Disorders Clinical Practice, 9, pp. S32 - S35, http://dx.doi.org/10.1002/mdc3.13538
    Journal articles | 2022
    Wong WK; Troedson C; Damme M; Goetti R; Temple SEL; Schöls L; Balousha G; Prelog K; Buckley M; Roscioli T; Hengel H; Mohammad SS, 2022, 'BCAS3-Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation', Movement Disorders, 37, pp. 870 - 872, http://dx.doi.org/10.1002/mds.28915
    Journal articles | 2022
    Yuen M; Worgan L; Iwanski J; Pappas CT; Joshi H; Churko JM; Arbuckle S; Kirk EP; Zhu Y; Roscioli T; Gregorio CC; Cooper ST, 2022, 'Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant', European Journal of Human Genetics, 30, pp. 450 - 457, http://dx.doi.org/10.1038/s41431-022-01043-8
    Journal articles | 2021
    Buckley MF; Roscioli T, 2021, 'Exomes in prenatal testing: an introduction to the pregen study', Pathology, 53, pp. S10 - S10, http://dx.doi.org/10.1016/j.pathol.2021.05.039
    Journal articles | 2021
    Field MJ; Kumar R; Hackett A; Kayumi S; Shoubridge CA; Ewans LJ; Ivancevic AM; Dudding-Byth T; Carroll R; Kroes T; Gardner AE; Sullivan P; Ha TT; Schwartz CE; Cowley MJ; Dinger ME; Palmer EE; Christie L; Shaw M; Roscioli T; Gecz J; Corbett MA, 2021, 'Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, 42, pp. 835 - 847, http://dx.doi.org/10.1002/humu.24207
    Journal articles | 2021
    Kirk EP; Ong R; Boggs K; Hardy T; Righetti S; Kamien B; Roscioli T; Amor DJ; Bakshi M; Chung CWT; Colley A; Jamieson RV; Liebelt J; Ma A; Pachter N; Rajagopalan S; Ravine A; Wilson M; Caruana J; Casella R; Davis M; Edwards S; Archibald A; McGaughran J; Newson AJ; Laing NG; Delatycki MB, 2021, 'Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)', European Journal of Human Genetics, 29, pp. 79 - 87, http://dx.doi.org/10.1038/s41431-020-0685-x
    Journal articles | 2021
    Li D; March ME; Fortugno P; Cox LL; Matsuoka LS; Monetta R; Seiler C; Pyle LC; Bedoukian EC; Sánchez-Soler MJ; Caluseriu O; Grand K; Tam A; Aycinena ARP; Camerota L; Guo Y; Sleiman P; Callewaert B; Kumps C; Dheedene A; Buckley M; Kirk EP; Turner A; Kamien B; Patel C; Wilson M; Roscioli T; Christodoulou J; Cox TC; Zackai EH; Brancati F; Hakonarson H; Bhoj EJ, 2021, 'Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome', Human Genetics, 140, pp. 1061 - 1076, http://dx.doi.org/10.1007/s00439-021-02274-3
    Journal articles | 2021
    Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2021, 'ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data', Genome Medicine, 13, http://dx.doi.org/10.1186/s13073-021-00841-x
    Journal articles | 2021
    Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782, http://dx.doi.org/10.1212/WNL.0000000000011655
    Journal articles | 2021
    Sundercombe SL; Berbic M; Evans CA; Cliffe C; Elakis G; Temple SEL; Selvanathan A; Ewans L; Quayum N; Nixon CY; Dias KR; Lang S; Richards A; Goh S; Wilson M; Mowat D; Sachdev R; Sandaradura S; Walsh M; Farrar MA; Walsh R; Fletcher J; Kirk EP; Teunisse GM; Schofield D; Buckley MF; Zhu Y; Roscioli T, 2021, 'Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency', Journal of Molecular Diagnostics, 23, pp. 894 - 905, http://dx.doi.org/10.1016/j.jmoldx.2021.04.007
    Journal articles | 2021
    Vavassori S; Chou J; Faletti LE; Haunerdinger V; Opitz L; Joset P; Fraser CJ; Prader S; Gao X; Schuch LA; Wagner M; Hoefele J; Maccari ME; Zhu Y; Elakis G; Gabbett MT; Forstner M; Omran H; Kaiser T; Kessler C; Olbrich H; Frosk P; Almutairi A; Platt CD; Elkins M; Weeks S; Rubin T; Planas R; Marchetti T; Koovely D; Klämbt V; Soliman NA; von Hardenberg S; Klemann C; Baumann U; Lenz D; Klein-Franke A; Schwemmle M; Huber M; Sturm E; Hartleif S; Häffner K; Gimpel C; Brotschi B; Laube G; Güngör T; Buckley MF; Kottke R; Staufner C; Hildebrandt F; Reu-Hofer S; Moll S; Weber A; Kaur H; Ehl S; Hiller S; Geha R; Roscioli T; Griese M; Pachlopnik Schmid J, 2021, 'Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency', Journal of Allergy and Clinical Immunology, 148, pp. 381 - 393, http://dx.doi.org/10.1016/j.jaci.2021.03.045
    Journal articles | 2021
    Yuen M; Worgan L; Iwanski J; Pappas C; Joshi H; Churko J; Arbuckle S; Kirk E; Roscioli T; Gregorio C; Cooper S, 2021, 'Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant', NEUROMUSCULAR DISORDERS, 31, pp. S142 - S142, http://dx.doi.org/10.1016/j.nmd.2021.07.328
    Journal articles | 2020
    Buckley MF; Elakis G; Lang S; Richards A; Cliffe C; Chan C-Y; Kirk EP; Zhu Y; Roscioli T, 2020, 'Indications and outcomes of rapid turn around time whole exome sequencing studies', Pathology, 52, pp. S29 - S29, http://dx.doi.org/10.1016/j.pathol.2020.01.120
    Journal articles | 2020
    Cheng H; Capponi S; Wakeling E; Marchi E; Li Q; Zhao M; Weng C; Stefan PG; Ahlfors H; Kleyner R; Rope A; Lumaka A; Lukusa P; Devriendt K; Vermeesch J; Posey JE; Palmer EE; Murray L; Leon E; Diaz J; Worgan L; Mallawaarachchi A; Vogt J; de Munnik SA; Dreyer L; Baynam G; Ewans L; Stark Z; Lunke S; Gonçalves AR; Soares G; Oliveira J; Fassi E; Willing M; Waugh JL; Faivre L; Riviere JB; Moutton S; Mohammed S; Payne K; Walsh L; Begtrup A; Guillen Sacoto MJ; Douglas G; Alexander N; Buckley MF; Mark PR; Adès LC; Sandaradura SA; Lupski JR; Roscioli T; Agrawal PB; Kline AD; Wang K; Timmers HTM; Lyon GJ, 2020, 'Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity', Human Mutation, 41, pp. 449 - 464, http://dx.doi.org/10.1002/humu.23936
    Journal articles | 2020
    Doble B; Schofield D; Evans CA; Groza T; Mattick JS; Field M; Roscioli T, 2020, 'Impacts of genomics on the health and social costs of intellectual disability', Journal of Medical Genetics, 57, pp. 479 - 486, http://dx.doi.org/10.1136/jmedgenet-2019-106445
    Journal articles | 2020
    Justice CM; Cuellar A; Bala K; Sabourin JA; Cunningham ML; Crawford K; Phipps JM; Zhou Y; Cilliers D; Byren JC; Johnson D; Wall SA; Morton JEV; Noons P; Sweeney E; Weber A; Rees KEM; Wilson LC; Simeonov E; Kaneva R; Yaneva N; Georgiev K; Bussarsky A; Senders C; Zwienenberg M; Boggan J; Roscioli T; Tamburrini G; Barba M; Conway K; Sheffield VC; Brody L; Mills JL; Kay D; Sicko RJ; Langlois PH; Tittle RK; Botto LD; Jenkins MM; LaSalle JM; Lattanzi W; Wilkie AOM; Wilson AF; Romitti PA; Boyadjiev SA, 2020, 'A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis', Human Genetics, 139, pp. 1077 - 1090, http://dx.doi.org/10.1007/s00439-020-02157-z
    Journal articles | 2020
    Kaur S; Van Bergen NJ; Verhey KJ; Nowell CJ; Budaitis B; Yue Y; Ellaway C; Brunetti-Pierri N; Cappuccio G; Bruno I; Boyle L; Nigro V; Torella A; Roscioli T; Cowley MJ; Massey S; Sonawane R; Burton MD; Schonewolf-Greulich B; Tümer Z; Chung WK; Gold WA; Christodoulou J, 2020, 'Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)', Human Mutation, 41, pp. 1761 - 1774, http://dx.doi.org/10.1002/humu.24079
    Journal articles | 2020
    Kaur S; Van Bergen NJ; Verhey KJ; Nowell CJ; Budaitis B; Yue Y; Ellaway C; Brunetti‐Pierri N; Cappuccio G; Bruno I; Boyle L; Nigro V; Torella A; Roscioli T; Cowley MJ; Massey S; Sonawane R; Burton MD; Schonewolf‐Greulich B; Tümer Z; Chung WK; Gold WA; Christodoulou J, 2020, 'Cover, Volume 41, Issue 10', Human Mutation, 41, http://dx.doi.org/10.1002/humu.24115
    Journal articles | 2020
    LeBlanc S; Naveen D; Haan E; Barnett C; Rawlings L; Roscioli T; Poplawski N, 2020, 'CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk', American Journal of Medical Genetics, Part A, 182, pp. 1780 - 1784, http://dx.doi.org/10.1002/ajmg.a.61601
    Journal articles | 2020
    Lessel D; Zeitler DM; Reijnders MRF; Kazantsev A; Hassani Nia F; Bartholomäus A; Martens V; Bruckmann A; Graus V; McConkie-Rosell A; McDonald M; Lozic B; Tan ES; Gerkes E; Johannsen J; Denecke J; Telegrafi A; Zonneveld-Huijssoon E; Lemmink HH; Cham BWM; Kovacevic T; Ramsdell L; Foss K; Le Duc D; Mitter D; Syrbe S; Merkenschlager A; Sinnema M; Panis B; Lazier J; Osmond M; Hartley T; Mortreux J; Busa T; Missirian C; Prasun P; Lüttgen S; Mannucci I; Lessel I; Schob C; Kindler S; Pappas J; Rabin R; Willemsen M; Gardeitchik T; Löhner K; Rump P; Dias KR; Evans CA; Andrews PI; Roscioli T; Brunner HG; Chijiwa C; Lewis MES; Jamra RA; Dyment DA; Boycott KM; Stegmann APA; Kubisch C; Tan EC; Mirzaa GM; McWalter K; Kleefstra T; Pfundt R; Ignatova Z; Meister G; Kreienkamp HJ, 2020, 'Germline AGO2 mutations impair RNA interference and human neurological development', Nature Communications, 11, http://dx.doi.org/10.1038/s41467-020-19572-5
    Journal articles | 2020
    Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; De Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z, 2020, 'Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System', JAMA - Journal of the American Medical Association, 323, pp. 2503 - 2511, http://dx.doi.org/10.1001/jama.2020.7671
    Journal articles | 2020
    Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z, 2020, 'Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the australian public health care system', Obstetrical and Gynecological Survey, 75, pp. 662 - 664, http://dx.doi.org/10.1097/01.ogx.0000722040.32795.04
    Journal articles | 2020
    Riley LG; Rudinger-Thirion J; Frugier M; Wilson M; Luig M; Alahakoon TI; Nixon CY; Kirk EP; Roscioli T; Lunke S; Stark Z; Wierenga KJ; Palle S; Walsh M; Higgs E; Arbuckle S; Thirukeswaran S; Compton AG; Thorburn DR; Christodoulou J, 2020, 'The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy', Human Mutation, 41, pp. 1425 - 1434, http://dx.doi.org/10.1002/humu.24050
    Journal articles | 2020
    Schofield DJ; Tan O; Shrestha RN; Rajkumar R; West S; Rice M; Kasparian N; Boyle J; Christie L; Leffler M; Murray L; Tanton R; Li J; Roscioli T; Field M, 2020, 'IDMOD: An Australian microsimulation model of lifetime economic and social factors in familial intellectual disability', International Journal of Microsimulation, 13, pp. 52 - 66, http://dx.doi.org/10.34196/ijm.00212
    Journal articles | 2020
    Selvanathan A; Nixon CY; Zhu Y; Scietti L; Forneris F; Moreno Uribe LM; Lidral AC; Jezewski PA; Mulliken JB; Murray JC; Buckley MF; Cox TC; Roscioli T, 2020, 'CDH1 mutation distribution and type suggests genetic differences between the etiology of orofacial clefting and gastric cancer', Genes, 11, http://dx.doi.org/10.3390/genes11040391
    Journal articles | 2020
    Van Eyck L; Bruni F; Ronan A; Briggs TA; Roscioli T; Rice GI; Vassallo G; Rodero MP; He L; Taylor RW; Livingston JH; Chrzanowska-Lightowlers ZMA; Crow YJ, 2020, 'Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy', Neuropediatrics, 51, pp. 178 - 184, http://dx.doi.org/10.1055/s-0039-3400979
    Journal articles | 2019
    Cowley MJ; Liu YC; Oliver KL; Carvill G; Myers CT; Gayevskiy V; Delatycki M; Vlaskamp DRM; Zhu Y; Mefford H; Buckley MF; Bahlo M; Scheffer IE; Dinger ME; Roscioli T, 2019, 'Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection', Human Mutation, 40, pp. 374 - 379, http://dx.doi.org/10.1002/humu.23699
    Journal articles | 2019
    Cox TC; Lidral AC; McCoy JC; Liu H; Cox LL; Zhu Y; Anderson RD; Moreno Uribe LM; Anand D; Deng M; Richter CT; Nidey NL; Standley JM; Blue EE; Chong JX; Smith JD; Kirk EP; Venselaar H; Krahn KN; Bokhoven H; Zhou H; Cornell RA; Glass IA; Bamshad MJ; Nickerson DA; Murray JC; Lachke SA; Thompson TB; Buckley MF; Roscioli T, 2019, 'Front Cover, Volume 40, Issue 10', Human Mutation, 40, http://dx.doi.org/10.1002/humu.23923
    Journal articles | 2019
    Cox TC; Lidral AC; McCoy JC; Liu H; Cox LL; Zhu Y; Anderson RD; Moreno Uribe LM; Anand D; Deng M; Richter CT; Nidey NL; Standley JM; Blue EE; Chong JX; Smith JD; Kirk EP; Venselaar H; Krahn KN; van Bokhoven H; Zhou H; Cornell RA; Glass IA; Bamshad MJ; Nickerson DA; Murray JC; Lachke SA; Thompson TB; Buckley MF; Roscioli T, 2019, 'Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans', Human Mutation, 40, pp. 1813 - 1825, http://dx.doi.org/10.1002/humu.23793
    Journal articles | 2019
    Evans CA; Pinner J; Chan CY; Bowyer L; Mowat D; Buckley MF; Roscioli T, 2019, 'Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing', American Journal of Medical Genetics, Part A, 179, pp. 2152 - 2157, http://dx.doi.org/10.1002/ajmg.a.61295
    Journal articles | 2019
    Ewans LJ; Colley A; Gaston-Massuet C; Gualtieri A; Cowley MJ; McCabe MJ; Anand D; Lachke SA; Scietti L; Forneris F; Zhu Y; Ying K; Walsh C; Kirk EP; Miller D; Giunta C; Sillence D; DInger M; Buckley M; Roscioli T, 2019, 'Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications', Journal of Medical Genetics, 56, pp. 629 - 638, http://dx.doi.org/10.1136/jmedgenet-2019-106019
    Journal articles | 2019
    Fleming J; Terrill B; Dziadek M; Kirk EP; Roscioli T; Barlow-Stewart K, 2019, 'Personal genomic screening: How best to facilitate preparedness of future clients', European Journal of Medical Genetics, 62, pp. 397 - 404, http://dx.doi.org/10.1016/j.ejmg.2019.05.006
    Journal articles | 2019
    Gayevskiy V; Roscioli T; Dinger M; Cowley M, 2019, 'Seave: a comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, 35, pp. 122 - 125, http://dx.doi.org/10.1101/258061
    Journal articles | 2019
    Gayevskiy V; Roscioli T; Dinger ME; Cowley MJ, 2019, 'Seave: A comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, 35, pp. 122 - 125, http://dx.doi.org/10.1093/bioinformatics/bty540
    Journal articles | 2019
    Josephi-Taylor S; Barlow-Stewart K; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk EP, 2019, 'User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia', Journal of Genetic Counseling, 28, pp. 240 - 250, http://dx.doi.org/10.1007/s10897-018-0298-5
    Journal articles | 2019
    Josephi-Taylor S; Barlow-Stewart K; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk EP, 2019, 'User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.', J Genet Couns, 28, pp. 240 - 250, http://dx.doi.org/10.1007/s10897-018-0298-5
    Journal articles | 2019
    Kang C; Liang C; Ahmad KE; Gu Y; Siow SF; Colebatch JG; Whyte S; Ng K; Cremer PD; Corbett AJ; Davis RL; Roscioli T; Cowley MJ; Park JS; Sue CM; Kumar KR, 2019, 'High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia', Cerebellum, 18, pp. 137 - 146, http://dx.doi.org/10.1007/s12311-018-0969-7
    Journal articles | 2019
    Kirk EP; Barlow-Stewart K; Josephi-Taylor S; Roscioli T, 2019, 'Response to Suthers and Mina', Genetics in Medicine, 21, pp. 1258, http://dx.doi.org/10.1038/s41436-018-0318-8
    Journal articles | 2019
    Kirk EP; Barlow-Stewart K; Selvanathan A; Josephi-Taylor S; Worgan L; Rajagopalan S; Cowley MJ; Gayevskiy V; Bittles A; Burnett L; Elakis G; Lo W; Buckley M; Colley A; Roscioli T, 2019, 'Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”', Genetics in Medicine, 21, pp. 608 - 612, http://dx.doi.org/10.1038/s41436-018-0082-9
    Journal articles | 2019
    Ma A; Gurnasinghani S; Kirk EP; McClenaghan C; Singh GK; Grange DK; Pandit C; Zhu Y; Roscioli T; Elakis G; Buckley M; Mehta B; Roberts P; Mervis J; Biggin A; Nichols CG, 2019, 'Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience', American Journal of Medical Genetics, Part A, 179, pp. 1585 - 1590, http://dx.doi.org/10.1002/ajmg.a.61200
    Journal articles | 2019
    Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; Adams DR; Alejandro ME; Allard P; Azamian MS; Bacino CA; Balasubramanyam A; Barseghyan H; Batzli GF; Beggs AH; Behnam B; Bican A; Bick DP; Birch CL; Bonner D; Boone BE; Bostwick BL; Briere LC; Brown DM; Brush M; Burke EA; Burrage LC; Chen S; Clark GD; Coakley TR; Cogan JD; Cooper CM; Cope H; Craigen WJ; D'Souza P; Davids M; Dayal JG; Dell'Angelica EC; Dhar SU; Dillon A; Dipple KM; Donnell-Fink LA; Dorrani N; Dorset DC; Douine ED; Draper DD; Eckstein DJ; Emrick LT; Eng CM; Eskin A; Esteves C; Estwick T; Ferreira C; Fogel BL; Friedman ND; Gahl WA; Glanton E; Godfrey RA; Goldstein DB; Gould SE; Gourdine JPF; Groden CA, 2019, 'Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay', American Journal of Human Genetics, 104, pp. 164 - 178, http://dx.doi.org/10.1016/j.ajhg.2018.11.007
    Journal articles | 2019
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013
    Journal articles | 2019
    Sundercombe S; Roscioli T; Buckley MF; Zhu Y; Wang NY; Debinski C; McLean CA; Fahey M, 2019, 'An Atypical Case OF Early Neuronal Ceroid Lipofuscinosis Caused by A Previously Undocumented DNAJC5 Nonsense Mutation', Pathology, 51, pp. S33 - S33, http://dx.doi.org/10.1016/j.pathol.2018.12.076
    Journal articles | 2018
    Basilicata MF; Bruel AL; Semplicio G; Valsecchi CIK; Aktaş T; Duffourd Y; Rumpf T; Morton J; Bache I; Szymanski WG; Gilissen C; Vanakker O; Õunap K; Mittler G; van der Burgt I; El Chehadeh S; Cho MT; Pfundt R; Tan TY; Kirchhoff M; Menten B; Vergult S; Lindstrom K; Reis A; Johnson DS; Fryer A; McKay V; Fisher RB; Thauvin-Robinet C; Francis D; Roscioli T; Pajusalu S; Radtke K; Ganesh J; Brunner HG; Wilson M; Faivre L; Kalscheuer VM; Thevenon J; Akhtar A, 2018, 'De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation', Nature Genetics, 50, pp. 1442 - 1451, http://dx.doi.org/10.1038/s41588-018-0220-y
    Journal articles | 2018
    Cliffe C; Elakis G; Zhu Y; Mullan G; Mead R; Kirk E; Lau C; Buckley MF; Roscioli T, 2018, 'The validation of a diagnostic exome sequencing service for the investigation of monogenic disorders', Pathology, 50, pp. S63 - S64, http://dx.doi.org/10.1016/j.pathol.2017.12.149
    Journal articles | 2018
    Cox LL; Cox TC; Moreno Uribe LM; Zhu Y; Richter CT; Nidey N; Standley JM; Deng M; Blue E; Chong JX; Yang Y; Carstens RP; Anand D; Lachke SA; Smith JD; Dorschner MO; Bedell B; Kirk E; Hing AV; Venselaar H; Valencia-Ramirez LC; Bamshad MJ; Glass IA; Cooper JA; Haan E; Nickerson DA; van Bokhoven H; Zhou H; Krahn KN; Buckley MF; Murray JC; Lidral AC; Roscioli T, 2018, 'Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate', American Journal of Human Genetics, 102, pp. 1143 - 1157, http://dx.doi.org/10.1016/j.ajhg.2018.04.009
    Journal articles | 2018
    Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T, 2018, 'Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders', Genetics in Medicine, 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39
    Journal articles | 2018
    Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
    Journal articles | 2018
    Kaur R; Meiser B; Yanes T; Young M-A; Barlow-Stewart K; Roscioli T; Smith S; James PA, 2018, 'Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk', Familial Cancer, http://dx.doi.org/10.1007/s10689-018-0104-4
    Journal articles | 2018
    Leblanc S; David D; Colley A; Buckley M; Roscioli T; Barnett C, 2018, 'Atypical skin manifestations in FGFR2-related craniosynostosis syndromes broaden the phenotypic spectrum', Molecular Syndromology, 9, pp. 149 - 153, http://dx.doi.org/10.1159/000488439
    Journal articles | 2018
    Lee E; Le T; Zhu Y; Elakis G; Turner A; Lo W; Venselaar H; Verrenkamp CA; Snow N; Mowat D; Kirk EP; Sachdev R; Smith J; Brown NJ; Wallis M; Barnett C; McKenzie F; Freckmann ML; Collins F; Chopra M; Gregersen N; Hayes I; Rajagopalan S; Tan TY; Stark Z; Savarirayan R; Yeung A; Adès L; Gattas M; Gibson K; Gabbett M; Amor DJ; Lattanzi W; Boyd S; Haan E; Gianoutsos M; Cox TC; Buckley MF; Roscioli T, 2018, 'A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations', Genetics in Medicine, 20, pp. 1061 - 1068, http://dx.doi.org/10.1038/gim.2017.214
    Journal articles | 2018
    McCarthy J; Lupo PJ; Kovar E; Rech M; Bostwick B; Scott D; Kraft K; Roscioli T; Charrow J; Schrier Vergano SA; Lose E; Smiegel R; Lacassie Y; Schaaf CP, 2018, 'Schaaf-Yang syndrome overview: Report of 78 individuals', American Journal of Medical Genetics, Part A, 176, pp. 2564 - 2574, http://dx.doi.org/10.1002/ajmg.a.40650
    Journal articles | 2018
    Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
    Journal articles | 2018
    Smol T; Petit F; Piton A; Keren B; Sanlaville D; Afenjar A; Baker S; Bedoukian EC; Bhoj EJ; Bonneau D; Boudry-Labis E; Bouquillon S; Boute-Benejean O; Caumes R; Chatron N; Colson C; Coubes C; Coutton C; Devillard F; Dieux-Coeslier A; Doco-Fenzy M; Ewans LJ; Faivre L; Fassi E; Field M; Fournier C; Francannet C; Genevieve D; Giurgea I; Goldenberg A; Green AK; Guerrot AM; Heron D; Isidor B; Keena BA; Krock BL; Kuentz P; Lapi E; Le Meur N; Lesca G; Li D; Marey I; Mignot C; Nava C; Nesbitt A; Nicolas G; Roche-Lestienne C; Roscioli T; Satre V; Santani A; Stefanova M; Steinwall Larsen S; Saugier-Veber P; Picker-Minh S; Thuillier C; Verloes A; Vieville G; Wenzel M; Willems M; Whalen S; Zarate YA; Ziegler A; Manouvrier-Hanu S; Kalscheuer VM; Gerard B; Ghoumid J, 2018, 'MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype', Neurogenetics, 19, pp. 93 - 103, http://dx.doi.org/10.1007/s10048-018-0541-0
    Journal articles | 2017
    Balasubramaniam S; Riley LG; Bratkovic D; Ketteridge D; Manton N; Cowley MJ; Gayevskiy V; Roscioli T; Mohamed M; Gardeitchik T; Morava E; Christodoulou J, 2017, 'Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency', Journal of Inherited Metabolic Disease, 40, pp. 745 - 747, http://dx.doi.org/10.1007/s10545-017-0036-4
    Journal articles | 2017
    Baynam G; Bowman F; Lister K; Walker CE; Pachter N; Goldblatt J; Boycott KM; Gahl WA; Kosaki K; Adachi T; Ishii K; Mahede T; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Broley S; Schofield L; Verhoef H; Groza T; Zankl A; Robinson PN; Haendel M; Brudno M; Mattick JS; Dinger ME; Roscioli T; Cowley MJ; Olry A; Hanauer M; Alkuraya FS; Taruscio D; Posada De La Paz M; Lochmüller H; Bushby K; Thompson R; Hedley V; Lasko P; Mina K; Beilby J; Tifft C; Davis M; Laing NG; Julkowska D; Le Cam Y; Terry SF; Kaufmann P; Eerola I; Norstedt I; Rath A; Suematsu M; Groft SC; Austin CP; Draghia-Akli R; Weeramanthri TS; Molster C; Dawkins HJS, 2017, 'Improved diagnosis and care for rare diseases through implementation of precision public health framework', Advances in Experimental Medicine and Biology, 1031, pp. 55 - 94, http://dx.doi.org/10.1007/978-3-319-67144-4_4
    Journal articles | 2017
    Baynam G; Broley S; Bauskis A; Pachter N; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Schofield L; Helmholz P; Palmer R; Kung S; Walker CE; Molster C; Lewis B; Mina K; Beilby J; Pathak G; Poulton C; Groza T; Zankl A; Roscioli T; Dinger ME; Mattick JS; Gahl W; Groft S; Tifft C; Taruscio D; Lasko P; Kosaki K; Wilhelm H; Melegh B; Carapetis J; Jana S; Chaney G; Johns A; Owen PW; Daly F; Weeramanthri T; Dawkins H; Goldblatt J, 2017, 'Initiating an undiagnosed diseases program in the Western Australian public health system', Orphanet Journal of Rare Diseases, 12, http://dx.doi.org/10.1186/s13023-017-0619-z
    Journal articles | 2017
    De Sousa SMC; McCabe MJ; Wu K; Roscioli T; Gayevskiy V; Brook K; Rawlings L; Scott HS; Thompson TJ; Earls P; Gill AJ; Cowley MJ; Dinger ME; McCormack AI, 2017, 'Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours', European Journal of Endocrinology, 176, pp. 635 - 644, http://dx.doi.org/10.1530/EJE-16-0944
    Journal articles | 2017
    Doble B; Schofield DJ; Roscioli T; Mattick JS, 2017, 'Prioritising the application of genomic medicine', npj Genomic Medicine, 2, http://dx.doi.org/10.1038/s41525-017-0037-0
    Journal articles | 2017
    Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C, 2017, 'Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy', European Journal of Human Genetics, 25, pp. 763 - 767, http://dx.doi.org/10.1038/ejhg.2017.29
    Journal articles | 2017
    Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088
    Journal articles | 2017
    Liu H; Busch T; Eliason S; Anand D; Bullard S; Gowans LJJ; Nidey N; Petrin A; Augustine-Akpan EA; Saadi I; Dunnwald M; Lachke SA; Zhu Y; Adeyemo A; Amendt B; Roscioli T; Cornell R; Murray J; Butali A, 2017, 'Exome sequencing provides additional evidence for the involvement of ARHGAP29 in mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate', Birth Defects Research, 109, pp. 27 - 37, http://dx.doi.org/10.1002/bdra.23596
    Journal articles | 2017
    Murray N; Burgess B; Hay R; Colley A; Rajagopalan S; McGaughran J; Patel C; Enriquez A; Goodwin L; Stark Z; Tan T; Wilson M; Roscioli T; Tekin M; Goel H, 2017, 'KBG syndrome: An Australian experience', American Journal of Medical Genetics, Part A, 173, pp. 1866 - 1877, http://dx.doi.org/10.1002/ajmg.a.38121
    Journal articles | 2017
    Platzer K; Yuan H; Schütz H; Winschel A; Chen W; Hu C; Kusumoto H; Heyne HO; Helbig KL; Tang S; Willing MC; Tinkle BT; Adams DJ; Depienne C; Keren B; Mignot C; Frengen E; Strømme P; Biskup S; Döcker D; Strom TM; Mefford HC; Myers CT; Muir AM; LaCroix A; Sadleir L; Scheffer IE; Brilstra E; van Haelst MM; van der Smagt JJ; Bok LA; Møller RS; Jensen UB; Millichap JJ; Berg AT; Goldberg EM; De Bie I; Fox S; Major P; Jones JR; Zackai EH; Abou Jamra R; Rolfs A; Leventer RJ; Lawson JA; Roscioli T; Jansen FE; Ranza E; Korff CM; Lehesjoki AE; Courage C; Linnankivi T; Smith DR; Stanley C; Mintz M; McKnight D; Decker A; Tan WH; Tarnopolsky MA; Brady LI; Wolff M; Dondit L; Pedro HF; Parisotto SE; Jones KL; Patel AD; Franz DN; Vanzo R; Marco E; Ranells JD; Di Donato N; Dobyns WB; Laube B; Traynelis SF; Lemke JR, 2017, 'GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects', Journal of Medical Genetics, 54, pp. 460 - 470, http://dx.doi.org/10.1136/jmedgenet-2016-104509
    Journal articles | 2017
    Riley LG; Cowley MJ; Gayevskiy V; Roscioli T; Thorburn DR; Prelog K; Bahlo M; Sue CM; Balasubramaniam S; Christodoulou J, 2017, 'A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders', Journal of Inherited Metabolic Disease, 40, pp. 261 - 269, http://dx.doi.org/10.1007/s10545-016-0010-6
    Journal articles | 2017
    Teoh HL; Carey K; Sampaio H; Mowat D; Roscioli T; Farrar M, 2017, 'Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy', Neural Plasticity, 2017, http://dx.doi.org/10.1155/2017/6509493
    Journal articles | 2017
    Yanes T; meiser B; Young MA; Kaur R; Mitchell G; Barlow-Stewart K; Roscioli T; Halliday J; James P, 2017, 'Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study', BMC Cancer, http://dx.doi.org/10.1186/s12885-017-3485-0
    Journal articles | 2016
    Doble B; Schofield DJ; Roscioli T; Mattick JS, 2016, 'The promise of personalised medicine', The Lancet, 387, pp. 433 - 434, http://dx.doi.org/10.1016/S0140-6736(16)00176-8
    Journal articles | 2016
    Farrar MA; Teoh HL; Brammah S; Roscioli T; Cardamone M, 2016, 'Glial mitochondropathy in infantile neuroaxonal dystrophy: Pathophysiological and therapeutic implications', Brain, 139, pp. e67, http://dx.doi.org/10.1093/brain/aww174
    Journal articles | 2016
    Heimer G; Kerätär JM; Riley LG; Balasubramaniam S; Eyal E; Pietikäinen LP; Hiltunen JK; Marek-Yagel D; Hamada J; Gregory A; Rogers C; Hogarth P; Nance MA; Shalva N; Veber A; Tzadok M; Nissenkorn A; Tonduti D; Renaldo F; Bamshad MJ; Leal SM; Nickerson DA; Anderson P; Annable M; Blue EM; Buckingham KJ; Chin J; Chong JX; Cornejo R; Davis CP; Frazar C; He Z; Jarvik GP; Jimenez G; Johanson E; Kolar T; Krauter SA; Luksic D; Marvin CT; McGee S; McGoldrick DJ; Patterson K; Perez M; Phillips SW; Pijoan J; Robertson PD; Santos-Cortez R; Shankar A; Slattery K; Shively KM; Siegel DL; Smith JD; Tackett M; Wang G; Wegener M; Weiss JM; Wernick RI; Wheeler MM; Yi Q; Kraoua I; Panteghini C; Valletta L; Garavaglia B; Cowley MJ; Gayevskiy V; Roscioli T; Silberstein JM; Hoffmann C; Raas-Rothschild A; Tiranti V; Anikster Y; Christodoulou J; Kastaniotis AJ; Ben-Zeev B; Hayflick SJ, 2016, 'MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder', American Journal of Human Genetics, 99, pp. 1229 - 1244, http://dx.doi.org/10.1016/j.ajhg.2016.09.021
    Journal articles | 2016
    Kruszka P; Addissie YA; Yarnell CMP; Hadley DW; Guillen Sacoto MJ; Platte P; Paelecke Y; Collmann H; Snow N; Schweitzer T; Boyadjiev SA; Aravidis C; Hall SE; Mulliken JB; Roscioli T; Muenke M, 2016, 'Muenke syndrome: An international multicenter natural history study', American Journal of Medical Genetics, Part A, 170, pp. 918 - 929, http://dx.doi.org/10.1002/ajmg.a.37528
    Journal articles | 2016
    Kumar KR; Wali GM; Kamate M; Wali G; Minoche AE; Puttick C; Pinese M; Gayevskiy V; Dinger ME; Roscioli T; Sue CM; Cowley MJ, 2016, 'Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing', Neurogenetics, 17, pp. 265 - 270, http://dx.doi.org/10.1007/s10048-016-0495-z
    Journal articles | 2016
    Stoll M; Teoh H; Lee J; Reddel S; Zhu Y; Buckley M; Sampaio H; Roscioli T; Farrar M; Nicholson G, 2016, 'Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia', Neurology, 87, pp. 65 - 70, http://dx.doi.org/10.1212/WNL.0000000000002813
    Journal articles | 2016
    Teoh HL; Sampaio H; Roscioli T; Farrar M, 2016, 'Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing', Journal of Neurology, Neurosurgery and Psychiatry, 87, pp. 1384 - 1385, http://dx.doi.org/10.1136/jnnp-2016-313812
    Journal articles | 2016
    Teoh HL; Solyom A; Schuchman EH; Mowat D; Roscioli T; Farrar M; Sampaio H, 2016, 'Polyarticular arthritis and spinal muscular atrophy in acid ceramidase deficiency', Pediatrics, 138, http://dx.doi.org/10.1542/peds.2016-1068
    Journal articles | 2015
    Gray PE; O’Brien TA; Wagle M; Tangye SG; Palendira U; Roscioli T; Choo S; Sutton R; Ziegler JB; Frith K, 2015, 'Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant', Journal of Clinical Immunology, 35, pp. 604 - 609, http://dx.doi.org/10.1007/s10875-015-0194-9
    Journal articles | 2015
    Gray PEA; Logan GJ; Alexander IE; Poulton S; Roscioli T; Ziegler J, 2015, 'A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency', International Journal of Immunogenetics, 42, pp. 11 - 14, http://dx.doi.org/10.1111/iji.12166
    Journal articles | 2015
    Ma CS; Wong N; Rao G; Avery DT; Torpy J; Hambridge T; Bustamante J; Okada S; Stoddard JL; Deenick EK; Pelham SJ; Payne K; Boisson-Dupuis S; Puel A; Kobayashi M; Arkwright PD; Kilic SS; El Baghdadi J; Nonoyama S; Minegishi Y; Mahdaviani SA; Mansouri D; Bousfiha A; Blincoe AK; French MA; Hsu P; Campbell DE; Stormon MO; Wong M; Adelstein S; Smart JM; Fulcher DA; Cook MC; Phan TG; Stepensky P; Boztug K; Kansu A; Ikincioʇullari A; Baumann U; Beier R; Roscioli T; Ziegler JB; Gray P; Picard C; Grimbacher B; Warnatz K; Holland SM; Casanova JL; Uzel G; Tangye SG, 2015, 'Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies', Journal of Allergy and Clinical Immunology, 136, pp. 993 - 1006.e1, http://dx.doi.org/10.1016/j.jaci.2015.05.036
    Journal articles | 2015
    Palmer EE; Hayner J; Sachdev R; Cardamone M; Kandula T; Morris P; Dias KR; Tao J; Miller D; Zhu Y; Macintosh R; Dinger ME; Cowley MJ; Buckley MF; Roscioli T; Bye A; Kilberg MS; Kirk EP, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
    Journal articles | 2015
    Riemersma M; Mandel H; Van Beusekom E; Gazzoli I; Roscioli T; Eran A; Gershoni-Baruch R; Gershoni M; Pietrokovski S; Vissers LE; Lefeber DJ; Willemsen MA; Wevers RA; Van Bokhoven H, 2015, 'Absence of α-and β-dystroglycan is associated with Walker-Warburg syndrome', Neurology, 84, pp. 2177 - 2182, http://dx.doi.org/10.1212/WNL.0000000000001615
    Journal articles | 2015
    Tomas-Roca L; Tsaalbi-Shtylik A; Jansen JG; Singh MK; Epstein JA; Altunoglu U; Verzijl H; Soria L; Van Beusekom E; Roscioli T; Iqbal Z; Gilissen C; Hoischen A; De Brouwer APM; Erasmus C; Schubert D; Brunner H; Pérez Aytés A; Marin F; Aroca P; Kayserili H; Carta A; De Wind N; Padberg GW; Van Bokhoven H, 2015, 'De novo mutations in PLXND1 and REV3L cause Möbius syndrome', Nature Communications, 6, http://dx.doi.org/10.1038/ncomms8199
    Journal articles | 2014
    McBean R; Roscioli T; Hyland C; Flower R, 2014, 'Next generation sequencing of an australian family to identify the genetic basis of a rare blood group antigen', Pathology, 46, pp. S87 - S88, http://dx.doi.org/10.1097/01.pat.0000443640.76441.70
    Journal articles | 2014
    Thompson MD; Roscioli T; Hwang PA; Robinson PN; Andrade DM; Krawitz P, 2014, '8. Genetic basis of Mabry’s syndrome', Clinical Neurophysiology, 125, pp. e12 - e12, http://dx.doi.org/10.1016/j.clinph.2013.09.021
    Journal articles | 2013
    Buysse K; Riemersma M; Powell G; Van reeuwijk J; Chitayat D; Roscioli T; Kamsteeg EJ; Van den elzen C; Van beusekom E; Blaser S; Babul-Hirji R; Halliday W; Wright GJ; Stemple DL; Lin YY; Lefeber DJ; Van bokhoven H, 2013, 'Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome', Human Molecular Genetics, 22, pp. 1746 - 1754, http://dx.doi.org/10.1093/hmg/ddt021
    Journal articles | 2013
    Ganaiem H; Eisenstein EM; Tenenbaum ; Somech R; Simanovsky N; Roscioli T; Weintraub M; Stepensky P, 2013, 'The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome', Pediatric Allergy and Immunology, 24, pp. 250 - 256, http://dx.doi.org/10.1111/pai.12051
    Journal articles | 2013
    Grau T; Burbulla LF; Engl G; Delettre C; Delprat B; Oexle K; Leo-Kottler B; Roscioli T; Krüger R; Rapaport D; Wissinger B; Schimpf-Linzenbold S, 2013, 'A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network', Journal of Medical Genetics, 50, pp. 848 - 858, http://dx.doi.org/10.1136/jmedgenet-2013-101774
    Journal articles | 2013
    Handley TW; Morris-Rosendahl DJ; Brown S; Macdonald F; Hardy C; Bem D; Carpanini SM; Borck G; Martorell L; Izzi C; Faravelli F; Accorsi P; Pinelli L; Basel-Vanagaite L; Peretz G; Abdel-Salam GMH; Zaki MS; Jansen A; Mowat DR; Glass IA; Stewart H; Mancini GMS; Lederer D; Roscioli T; Giuliano F; Plomp AS; Rolfs A; Graham JM; Seemanova E; Poo P; Garcia-Cazorla A; Edery P; Jackson IJ; Aligianis IA; Maher ER, 2013, 'Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome', Human Mutation, 34, pp. 686 - 696, http://dx.doi.org/10.1002/humu.22296
    Journal articles | 2013
    Keupp K; Li Y; Vargel I; Hoischen A; Richardson R; Neveling K; Alanay Y; Uz E; Elcioğlu N; Rachwalski M; Kamaci S; Tunçbilek G; Akin B; Grötzinger J; Konas E; Mavili E; Müller-Newen G; Collmann H; Roscioli T; Buckley MF; Yigit G; Gilissen C; Kress W; Veltman J; Hammerschmidt M; Akarsu NA; Wollnik B, 2013, 'Mutations in the interleukin receptor cause autosomal recessive Crouzon-like craniosynostosis', Molecular Genetics & Genomic Medicine, 1, pp. 223 - 237, http://dx.doi.org/10.1002/mgg3.28
    Journal articles | 2013
    Khandelwal KD; van Bokhoven H; Roscioli T; Carels CEL; Zhou H, 2013, 'Genomic approaches for studying craniofacial disorders', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163, pp. 218 - 231, http://dx.doi.org/10.1002/ajmg.c.31379
    Journal articles | 2013
    Makrythanasis P; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EMHF; del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Izatt L; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis CL; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JHM; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BBA; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A, 2013, 'MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study', Clinical Genetics, 84, pp. 539 - 545, http://dx.doi.org/10.1111/cge.12081
    Journal articles | 2013
    Roscioli T; Elakis G; Cox TC; Moon DJ; Venselaar H; Turner AM; Le T; Hackett E; Haan E; Colley A; Mowat D; Worgan L; Kirk EP; Sachdev R; Thompson E; Gabbett M; Mcgaughran J; Gibson K; Gattas M; Freckmann ML; Dixon J; Hoefsloot L; Field M; Hackett A; Kamien B; Edwards M; Adès LC; Collins FA; Wilson MJ; Savarirayan R; Tan TY; Amor DJ; Mcgillivray G; White SM; Glass IA; David DJ; Anderson PJ; Gianoutsos M; Buckley MF, 2013, 'Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patients', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163, pp. 259 - 270, http://dx.doi.org/10.1002/ajmg.c.31378
    Journal articles | 2012
    Cliffe S; Bloch D; Suryani S; Kamsteeg E; Avery D; Palendira U; Church J; Wainstein B; Trizzino A; Lefranc G; Akatcherian C; Megarbane A; Gilissen C; Moshous D; Reichenbach J; Misbah S; Salzer U; Abinun M; Ong P; Stepensky P; Ruga E; Ziegler JB; Wong M; Tangye SG; Lindeman R; Buckley M; Roscioli T, 2012, 'Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome', Journal of Allergy and Clinical Immunology, 130, pp. 735 - 742, http://dx.doi.org/10.1016/j.jaci.2012.02.054
    Journal articles | 2012
    Justice CM; Yagnik G; Kim Y; Peter I; Jabs EW; Erazo M; Roscioli T, 2012, 'A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9', Nature Genetics, 44, pp. 1360 - 1364, http://dx.doi.org/10.1038/ng.2463
    Journal articles | 2012
    Kim S; Liu JL; Roscioli T; Buckley M; Yagnik G; Boyadjiev SA; Kim J, 2012, 'Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1', FEBS Letters, 586, pp. 1516 - 1521, http://dx.doi.org/10.1016/j.febslet.2012.04.010
    Journal articles | 2012
    Krawitz PM; Murakami Y; Hecht J; Kruger U; Holder SE; Roscioli T, 2012, 'Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation', American Journal of Human Genetics, 91, pp. 146 - 151, http://dx.doi.org/10.1016/j.ajhg.2012.05.004
    Journal articles | 2012
    Riviere J; Van bon BWM; Hoischen A; Kholmanskikh SS; Roscioli T, 2012, 'De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome', Nature Genetics, 44, pp. 440 - 444, http://dx.doi.org/10.1038/ng.1091
    Journal articles | 2012
    Roscioli T; Kamsteeg E; Buysse K; Maystadt I; Van reeuwijk J, 2012, 'Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of [alpha]-dystroglycan', Nature Genetics, 44, pp. 581 - 585, http://dx.doi.org/10.1038/ng.2253
    Journal articles | 2012
    Roscioli T, 2012, 'Next generation sequencing: a practical approach to an ethical framework for use in diagnostics and research', Pathology, 44, pp. S30 - S30, http://dx.doi.org/10.1016/s0031-3025(16)32672-1
    Journal articles | 2012
    Thompson M; Roscioli T; Marcelis C; Nezarati MM; Stolte-dijkstra I, 2012, 'Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)', American Journal of Medical Genetics Part A, 158A, pp. 553 - 558, http://dx.doi.org/10.1002/ajmg.a.35202
    Journal articles | 2012
    Wang T; Ong P; Roscioli T; Cliffe ST; Church J, 2012, 'Hepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110', Clinical Immunology, 145, pp. 102 - 107, http://dx.doi.org/10.1016/j.clim.2012.07.016
    Journal articles | 2011
    Guillard M; Morava E; De Ruijter J; Roscioli T; Penzien J; Van Den Heuvel L; Willemsen MA; De Brouwer A; Bodamer OA; Wevers RA; Lefeber DJ, 2011, 'B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement', Journal of Pediatrics, 159, http://dx.doi.org/10.1016/j.jpeds.2011.08.007
    Journal articles | 2011
    Rieubland C; Holmes AD; Caramins M; Roscioli T; Amor DJ, 2011, 'Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?', American Journal of Medical Genetics, Part A, 155, pp. 233 - 234, http://dx.doi.org/10.1002/ajmg.a.33776
    Journal articles | 2011
    Vissers LELM; Cox TC; Maga AM; Short KM; Wiradjaja F; Janssen IM; Jehee F; Bertola D; Liu J; Yagnik G; Sekiguchi K; Kiyozumi D; van Bokhoven H; Marcelis C; Cunningham ML; Anderson PJ; Boyadjiev SA; Passos-Bueno MR; Veltman JA; Smyth I; Buckley MF; Roscioli T, 2011, 'Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice', PLoS Genetics, 7, http://dx.doi.org/10.1371/journal.pgen.1002278
    Journal articles | 2010
    Kouwenhoven EN; va Heeringen SJ; Tena JJ; Oti M; Dutilh BE; Alonso ME; de la Elisa CM; Smeenk L; Rinne T; Parsaulian L; Bolat E; Jurgelenaite R; Huynen MA; Hoischen A; Veltman JA; Brunner HG; Roscioli T; Oates E; Wilson M; Manzanares M; José LGS; Stunnenberg HG; Lohrum M; van Bokhoven H; Zhou H, 2010, 'Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 shfm1 locus', PLoS Genetics, 6, http://dx.doi.org/10.1371/journal.pgen.1001065
    Journal articles | 2010
    Krawitz PM; Schweiger MR; Rödelsperger C; Marcelis C; Kölsch U; Meisel C; Stephani F; Kinoshita T; Murakami Y; Bauer S; Isau M; Fischer A; Dahl A; Kerick M; Hecht J; Köhler S; Jäger M; Grünhagen J; De Condor BJ; Doelken S; Brunner HG; Meinecke P; Passarge E; Thompson MD; Cole DE; Horn D; Roscioli T; Mundlos S; Robinson PN, 2010, 'Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome', Nature Genetics, 42, pp. 827 - 829, http://dx.doi.org/10.1038/ng.653
    Journal articles | 2010
    van Reeuwijk J; Olderode-Berends MJW; van den Elzen C; Brouwer OF; Roscioli T; van Pampus MG; Scheffer H; Brunner HG; van Bokhoven H; Hol FA, 2010, 'A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum', Clinical Genetics, 78, pp. 275 - 281, http://dx.doi.org/10.1111/j.1399-0004.2010.01384.x
    Journal articles | 2009
    Bochukova E; Roscioli T; Hedges D; Taylor I; Johnson D; David DJ; Deininger P; Wilkie A, 2009, 'Rare mutations of FGFR2 causing apert syndrome: Identification of the first partial gene deletion, and an Alu element insertion from a new subfamily', Human Mutation, 30, pp. 204 - 211
    Journal articles | 2009
    Cliffe S; Kramer MA; Hussain K; Robben J; de Jong E; de Brouwer A; Nibbeling E; Kamsteeg E; Wong M; Prendiville J; James C; Padidela R; Becknell C; van Bokhoven H; Deen P; Hennekam RC; Lindeman R; Schenck A; Roscioli T; Buckley M, 2009, 'SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway', Human Molecular Genetics, 18, pp. 2257 - 2265
    Journal articles | 2009
    James P; Culling B; Mullan GL; Jenkins MA; Elalkis G; Turners A; Mowat D; Wilson M; Anderson P; Savarirayan R; Cliffe ST; Caramins MC; Buckley MF; Tucker K; Roscioli T, 2009, 'Breast Cancer Risk Is Not Increased in Individuals with TWISTI Mutation Confirmed Saethre-Chotzen Syndrome: An Australian Multicenter Study', Genes Chromosomes and Cancer, 48, pp. 533 - 538
    Journal articles | 2009
    Padidela R; James C; Cliffe ST; Kramer JM; Robben JH; de Jong EK; de Brouwer AP; Nibbeling E; Kamsteeg E-J; Wong M; Prendiville J; Becknell C; van Bokhoven H; Deen PMT; Hennekam RCM; Lindeman R; Schenck A; Roscioli T; Buckley MF; Hussain K, 2009, 'Pigmentary hypertrichosis and insulin dependent diabetes mellitus (PHID) is caused by mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter-3 protein (hENT3)', HORMONE RESEARCH, 72, pp. 39 - 39, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000270489900123&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Journal articles | 2009
    Ramjan K; Roscioli T; Rutsch F; Sillence D; Munns C, 2009, 'Erratum: Generalized arterial calcification of infancy: Treatment with bisphosphonates (Nature Clinical Practice Endocrinology & Metabolism (2009) 5 (167-172))', Nature Reviews Endocrinology, 5, pp. 183, http://dx.doi.org/10.1038/nrendo.2009.56
    Journal articles | 2009
    Ramjan KA; Roscioli T; Rutsch F; Sillence D; Munns CFJ, 2009, 'Generalized arterial calcification of infancy: Treatment with bisphosphonates', Nature Clinical Practice Endocrinology and Metabolism, 5, pp. 167 - 172, http://dx.doi.org/10.1038/ncpendmet1067
    Journal articles | 2008
    Freeman L; Elakis G; Watson G; Mullan GL; Taylor PJ; Anderson P; Ogle R; Buckley MF; Roscioli T, 2008, 'Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation', Clinical Dysmorphology, 17, pp. 223 - 224, http://dx.doi.org/10.1097/MCD.0b013e3282fdcc86
    Journal articles | 2008
    Zankl A; Elakis G; Susman RD; Inglis G; Gardener G; Buckley MF; Roscioli T, 2008, 'Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation', American Journal of Medical Genetics, Part A, 146, pp. 212 - 218, http://dx.doi.org/10.1002/ajmg.a.32085
    Journal articles | 2007
    Anderson PJ; Cox TC; Roscioli T; Elakis G; Smithers L; David DJ; Powell B, 2007, 'Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis', Journal of Craniofacial Surgery, 18, pp. 312 - 314, http://dx.doi.org/10.1097/scs.0b013e31802d6e76
    Journal articles | 2007
    Cliffe ST; Wong MB; Taylor PJ; Ruga E; Wilcken B; Lindeman R; Buckley MF; Roscioli T, 2007, 'The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110', Prenatal Diagnosis, 27, pp. 674 - 676
    Journal articles | 2007
    Khong JJ; Anderson PJ; Hammerton M; Roscioli T; Selva D; David DJ, 2007, 'Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome', Journal of Craniofacial Surgery, 18, pp. 39 - 42, http://dx.doi.org/10.1097/01.scs.0000249358.74343.70
    Journal articles | 2007
    Munns CF; Roscioli T; Sillence DO, 2007, 'Infantile arterial calcification: Successful treatment with bisphosphonates', Bone, 40, pp. S68 - S68, http://dx.doi.org/10.1016/j.bone.2007.04.094
    Journal articles | 2006
    Anderson PJ; Netherway DJ; Cox TC; Roscioli T; David DJ, 2006, 'Do craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?', Journal of Craniofacial Surgery, 17, pp. 166 - 172, http://dx.doi.org/10.1097/01.scs.0000169000.58376.0f
    Journal articles | 2006
    McGaughran J; Sinnott S; Susman R; Buckley MF; Elakis G; Cox T; Roscioli T, 2006, 'A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype', Clinical Dysmorphology, 15, pp. 89 - 93
    Journal articles | 2006
    Roscioli T; Cliffe ST; Bloch D; Bell C; Mullan GL; Taylor PJ; Sarris M; Wang J; Donald JA; Kirk EP; Ziegler JB; Salzer U; McDonald GB; Wong M; Lindeman R; Buckley MF, 2006, 'Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease', Nature Genetics, 38, pp. 620 - 622
    Journal articles | 2006
    Varol A; Stapleton K; Roscioli T, 2006, 'The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation', Australasian Journal of Dermatology, 47, pp. 274 - 276, http://dx.doi.org/10.1111/j.1440-0960.2006.00294.x
    Journal articles | 2005
    Elliott AM; Reed MH; Roscioli T; Evans JA, 2005, 'Discrepancies in upper and lower limb patterning in split hand foot malformation', Clinical Genetics, 68, pp. 408 - 423, http://dx.doi.org/10.1111/j.1399-0004.2005.00511.x
    Journal articles | 2005
    McGillivray G; Savarirayan R; Cox TC; Stojkoski C; McNeil R; Bankier A; Bateman JF; Roscioli T; Gardner RJM; Lamandé SR, 2005, 'Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain', Journal of Medical Genetics, 42, pp. 656 - 662, http://dx.doi.org/10.1136/jmg.2004.027888
    Journal articles | 2005
    Roscioli T; Kennedy D; Cui JS; Fonseca BK; Watson GF; Pereira JK; Xie Y; Mowat DR, 2005, 'Pallister-Hall syndrome: Unreported skeletal features of a GLI3 mutation', American Journal of Medical Genetics Part A, 136A, pp. 390 - 394
    Journal articles | 2004
    Anderson PJ; Netherway DJ; Abbott AH; Cox T; Roscioli T; David DJ, 2004, 'Analysis of intracranial volume in Apert syndrome genotypes', Pediatric Neurosurgery, 40, pp. 161 - 164, http://dx.doi.org/10.1159/000081933
    Journal articles | 2004
    Morris AR; Mullan GL; Roscioli T; Buckley MF; Moore CH, 2004, 'A genetic linkage study of detrusor overactivity', Neurourology and Urodynamics, 23, pp. 404 - 406
    Journal articles | 2004
    Roscioli T; Taylor PC; Bohlken A; Donald JA; Masel J; Glass I; Buckley MF, 2004, 'The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing ofthe critical region and confirmation of the clinical phenotype', American Journal of Medical Genetics Part A, 124A, pp. 136 - 141
    Journal articles | 2003
    Hyland VJ; Robertson SP; Flanagan S; Savarirayan R; Roscioli T; Masel J; Hayes M; Glass IA, 2003, 'Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia', American Journal of Medical Genetics, 120 A, pp. 157 - 168, http://dx.doi.org/10.1002/ajmg.a.20012
    Journal articles | 2003
    Rutsch F; Ruf N; Vaingankar S; Toliat MR; Suk A; Höhne W; Schauer G; Lehmann M; Roscioli T; Schnabel D; Epplen JT; Knisely A; Superti-Furga A; McGill J; Filippone M; Sinaiko AR; Vallance H; Hinrichs B; Smith W; Ferre M; Terkeltaub R; Nürnberg P, 2003, 'Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification', Nature Genetics, 34, pp. 379 - 381, http://dx.doi.org/10.1038/ng1221
    Journal articles | 2002
    Milledge J; Shaw PJ; Mansour A; Williamson S; Bennetts B; Roscioli T; Curtin J; Christodoulou J, 2002, 'Allogeneic bone marrow transplantation: Cure for familial Mediterranean fever', Blood, 100, pp. 774 - 777, http://dx.doi.org/10.1182/blood-2002-02-0651
    Journal articles | 2001
    Roscioli T; Flanagan S; Mortimore RJ; Kumar P; Weedon D; Masel J; Lewandowski R; Hyland V; Glass IA, 2001, 'Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3', American Journal of Medical Genetics, 101, pp. 187 - 194, http://dx.doi.org/10.1002/ajmg.1369
    Journal articles | 2000
    Roscioli T; Flanagan S; Kumar P; Masel J; Gattas M; Hyland VJ; Glass IA, 2000, 'Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature', American Journal of Medical Genetics, 93, pp. 22 - 28, http://dx.doi.org/10.1002/1096-8628(20000703)93:1<22::AID-AJMG5>3.0.CO;2-U
  • Conference Abstracts | 2022
    Sundercombe S; Walsh R; Hanna B; Elserafy N; Kirk E; Zhang F; Zhu Y; Buckley M; Aklilu E; Roscioli T, 2022, 'PIGV P.L472p mutation identified by exome sequencing in a neonate with a glycosylation disorder confirmed by flow cytometry', in Pathology, Elsevier BV, Vol. 54, pp. S72 - S73, http://dx.doi.org/10.1016/j.pathol.2021.12.239
    Preprints | 2022
    Vetro A; Balestrini S; Pelorosso C; Masi A; Hambleton S; Argilli E; Conti V; Giubbolini S; Barrick R; Bergant G; Writzl K; Bijlsma EK; Brunet T; Cacheiro P; Mei D; Devlin A; Hoffer MJV; Machol K; Mannaioni G; Sakamoto M; Menezes MP; Courtin T; Sherr E; Parra R; Richardson R; Roscioli T; Scala M; Stülpnagel CV; Smedley D; Torella A; Tohyama J; Koichihara R; Hamada K; Ogata K; Suzuki T; Sugie A; van der Smagt JJ; van Gassen K; Valence S; Vittery E; Kato M; Matsumoto N; Ratto GM; Guerrini R, 2022, Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration, , http://dx.doi.org/10.1101/2022.11.22.22282283
    Preprints | 2020
    Kuroda Y; Iwata-Otsubo A; Dias K-R; Temple SEL; Nagao K; De Hayr L; Zhu Y; Isobe S-Y; Nishibuchi G; Fiordaliso SK; Fujita Y; Rippert AL; Baker SW; Leung ML; Koboldt DC; Harman A; Keena BA; Kazama I; Musuwadi Subramanian G; Manickam K; Schmalz B; Latsko M; Zackai EH; Edwards M; Evans C-A; Dulik MC; Buckley MF; Yamashita T; O’Brien WT; Harvey RJ; Obuse C; Roscioli T; Izumi K, 2020, Dominant-negative mutations inCBX1cause a neurodevelopmental disorder, , http://dx.doi.org/10.1101/2020.09.29.319228
    Preprints | 2020
    Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2020, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, , http://dx.doi.org/10.1101/2020.06.30.20143453
    Preprints | 2019
    Chiapparino A; De Giorgi F; Scietti L; Faravelli S; Roscioli T; Forneris F, 2019, A cooperative network of molecular “hot spots” highlights the complexity of LH3 collagen glycosyltransferase activities, , http://dx.doi.org/10.1101/841486
    Other | 2019
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Jalal Ahmed HM; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2019, Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013)), , http://dx.doi.org/10.1016/j.ajhg.2019.03.016
    Conference Abstracts | 2016
    Goodnow C; Reed J; Burnett D; Brink R; Christ D; Schofield P; Perotti S; Enders A; Ziegler J; Wainstein B; Roscioli T; Gray P, 2016, 'Redemption or Revolt of Forbidden Clones: Mutations, Autoantibodies and CTLA4-Ig Therapy', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 3 - 3, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Posters | 2016
    Roscioli T; Teoh HL; Zhu Y; Sampaio H; Mowat D; Buckley M; Farrar MA, 2016, 'Next Generation Sequencing in Spinal muscular atrophy syndromes', Kyoto, Japan, presented at 13th International Congress of Human Genetics, Kyoto, Japan
    Conference Posters | 2015
    Gray P; Buckley M; Ziegler J; Lo W; Elakise G; Mackintosh R; Mullan G; O'Brien T; Walsh C; Minoche A; Zhu Y; Gayevskiy V; Lee E; Cowley M; Dinger M; Roscioli T, 2015, 'MENDELIAN ERRORS ASSIST IN CALLING COPY NUMBER VARIATION FROM GENOMIC SEQUENCING DATA: AN ILLUSTRATIVE CASE OF HETEROZYGOUS FAS DELETION', Vol. 45, pp. 21 - 21, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000360834700069&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2014
    Gray P; Walsh C; Elakis G; Buckley M; Ziegler J; Roscioli T, 2014, 'A Successful Application of Next Generation Sequencing to the Diagnosis of Adaptive Primary Immunodeficiency', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S343 - S344, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100435&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2014
    Gray P; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Cowley M; Dinger M; Buckley M; Ziegler J; Tangye S; Roscioli T, 2014, 'Extrapulmonary Non-Tuberculous Mycobacterial Infection in a Child with Autosomal Dominant Hyper IgE Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, Vol. 34, pp. S499 - S500, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100775&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2014
    Gray PE; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Kashef S; Cowley M; Dinger M; Buckley MF; Ziegler JB; Roscioli T, 2014, 'A SUCCESSFUL APPLICATION OF NEXT GENERATION SEQUENCING TO THE DIAGNOSIS OF ADAPTIVE PRIMARY IMMUNODEFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY-BLACKWELL, Vol. 44, pp. 10 - 10, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000342722800033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2008
    Wang T; Ong P; Roscioli T; Cliffe ST; Lindeman R; Buckley MF; Church J, 2008, 'Veno-occlusive disease with immunodeficiency (VODI): First reported case in the US and identification of a unique mutation in the gene encoding a PML nuclear body protein, SP110', in Clinical Immunology, Academic Press Inc Elsevier Science, San Diego, Ca, USA, pp. S61 - S61, presented at 8th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, Boston, Massachusetts, 05 June 2008 - 09 June 2008, http://dx.doi.org/10.1016/j.clim.2008.03.168
    Conference Papers | 2003
    Roscioli T; Buckley MF; Taylor PJ; Kirk E; Ziegler J; Wong M; Donald JA; Lindeman R, 2003, 'Familial veno-occlusive disease of the liver with immunodeficiency: Localization to a 1Mb region of 2q36.3-37.1 via homozygosity mapping.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, CALIFORNIA, LOS ANGELES, pp. 467 - 467, presented at Annual Meeting of the American-Society-of-Human-Genetics, CALIFORNIA, LOS ANGELES, 04 November 2003 - 08 November 2003, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000185599701744&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2003
    Turner AM; Roscioli T; Elakis G; Taylor PJ; Cox T; Haan E; Oley C; McGaughran J; Dixon J; Edwards M; Savarirayan R; Gianoutsos M; David DJ; Buckley MF; Pospisil V, 2003, 'Molecular testing for TWIST and FGFR1-3 mutations in a cohort of 153 craniofacial patients.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, CALIFORNIA, LOS ANGELES, pp. 212 - 212, presented at Annual Meeting of the American-Society-of-Human-Genetics, CALIFORNIA, LOS ANGELES, 04 November 2003 - 08 November 2003, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000185599700254&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2002
    Roscioli T; Buckley MF; Kirk E; Isaacs D; Wong M; Ziegler J; Lindeman R, 2002, 'Familial Veno-occlusive disease of the liver with immunodeficiency: homozygosity mapping and call for patients', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, MARYLAND, BALTIMORE, pp. 282 - 282, presented at 52nd Annual Meeting of the American-Society-of-Human-Genetics, MARYLAND, BALTIMORE, 15 October 2002 - 19 October 2002, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000178025800648&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2000
    Clarke N; Roscioli T; Taylor PJ; Yip MY; Jackson J; Buckley MF; Turner A, 2000, 'A further case of the Angelman syndrome molecular defect presenting with an atypical phenotype.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, pp. 345 - 345, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000089400701922&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1